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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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ASPSCR1
ASPSCR1 tether for SLC2A4, UBX domain containing
Chromosome 17 · 17q25.3
NCBI Gene: 79058Ensembl: ENSG00000169696.17HGNC: HGNC:13825UniProt: Q9BZE9
82PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Oncogene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
methyltransferase regulator activitypeptidyl-lysine trimethylationnucleoplasmprotein bindingrestless legs syndromesmoking initiationinsomniaalveolar soft part sarcoma
✦AI Summary

ASPSCR1 (ASPSCR1 tether for SLC2A4, UBX domain containing) functions as a tethering protein that regulates glucose homeostasis by sequestering GLUT4-containing vesicles in the cytoplasm in the absence of insulin [UniProt]. The protein also plays a crucial role in organizing the early secretory pathway, specifically localizing to the ER-Golgi Intermediate Compartment (ERGIC) where it forms biomolecular condensates and stabilizes ERGIC membranes to support diverse secretory and degradative trafficking pathways 1. ASPSCR1 contains a central disordered region that mediates membrane recruitment and an N-terminal region for oligomerization 1. Clinically, ASPSCR1 is most significant as part of the ASPSCR1::TFE3 fusion oncoprotein, which serves as the primary genetic driver of alveolar soft part sarcoma (ASPS) and certain renal cell carcinomas 2. This fusion protein reprograms transcription by organizing enhancer loops around hexameric VCP/p97, driving core programs involved in cell proliferation, angiogenesis, and mitochondrial biology 3. Patients with ASPSCR1-TFE3 fusion cancers show better response to immune checkpoint inhibitor-based combination therapy compared to other TFE3 fusion variants 4, making fusion partner identification clinically relevant for treatment decisions.

Sources cited
1
ASPSCR1 localizes to ERGIC, forms biomolecular condensates, and organizes early secretory pathway
PMID: 40593538
2
ASPSCR1::TFE3 fusion drives ASPS by regulating cell proliferation, angiogenesis, and mitochondrial biology
PMID: 38657118
3
ASPSCR1::TFE3 reprograms transcription by organizing enhancer loops around VCP/p97
PMID: 38326311
4
ASPSCR1-TFE3 fusion patients show better response to ICI-based combination therapy
PMID: 38926757
⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
restless legs syndromeOpen Targets
0.44Moderate
smoking initiationOpen Targets
0.44Moderate
insomniaOpen Targets
0.43Moderate
alveolar soft part sarcomaOpen Targets
0.38Weak
renal carcinomaOpen Targets
0.37Weak
undifferentiated pleomorphic sarcomaOpen Targets
0.37Weak
ParagangliomaOpen Targets
0.37Weak
alveolar rhabdomyosarcomaOpen Targets
0.37Weak
chordomaOpen Targets
0.37Weak
cutaneous melanomaOpen Targets
0.37Weak
attention deficit hyperactivity disorderOpen Targets
0.35Weak
substance abuseOpen Targets
0.35Weak
Renal Cell Carcinoma Associated with Xp11.2 Translocations/TFE3 Gene FusionsOpen Targets
0.29Weak
papillary renal cell carcinomaOpen Targets
0.28Weak
Granular Cell TumorOpen Targets
0.28Weak
rhabdomyosarcomaOpen Targets
0.28Weak
clear cell renal carcinomaOpen Targets
0.28Weak
synovial sarcomaOpen Targets
0.28Weak
chromophobe renal cell carcinomaOpen Targets
0.28Weak
mixed liposarcomaOpen Targets
0.28Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
VCPProtein interaction100%FAF1Protein interaction100%UBXN7Protein interaction100%NPLOC4Protein interaction100%NSFL1CProtein interaction100%UBXN10Protein interaction100%
Tissue Expression6 tissues
Liver
100%
Lung
46%
Ovary
37%
Bone Marrow
25%
Brain
17%
Heart
15%
Gene Interaction Network
Click a node to explore
ASPSCR1VCPFAF1UBXN7NPLOC4NSFL1CUBXN10
PROTEIN STRUCTURE
Preparing viewer…
PDB5IFS · 2.46 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.05LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.84 [0.68–1.05]
RankingsWhere ASPSCR1 stands among ~20K protein-coding genes
  • #5,774of 20,598
    Most Researched82
  • #10,520of 17,882
    Most Constrained (LOEUF)1.05
Genes detectedASPSCR1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Integrated exome and RNA sequencing of TFE3-translocation renal cell carcinoma.
PMID: 34489456
Nat Commun · 2021
1.00
2
TUG protein acts through a disordered region to organize the early secretory pathway.
PMID: 40593538
Nat Commun · 2025
0.90
3
TFE3 -Rearranged PEComa/PEComa-like Neoplasms : Report of 25 New Cases Expanding the Clinicopathologic Spectrum and Highlighting its Association With Prior Exposure to Chemotherapy.
PMID: 38597260
Am J Surg Pathol · 2024
0.80
4
ASPSCR1::TFE3 Drives Alveolar Soft Part Sarcoma by Inducing Targetable Transcriptional Programs.
PMID: 38657118
Cancer Res · 2024
0.70
5
Patients with ASPSCR1-TFE3 fusion achieve better response to ICI based combination therapy among TFE3-rearranged renal cell carcinoma.
PMID: 38926757
Mol Cancer · 2024
0.60